Gene Symbol | PQBP1 |
Entrez Gene ID | 10084 |
Full Name | polyglutamine binding protein 1 |
Synonyms | MRX2,MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]. |
Disorder MIM: | |
Disorder Html: | Renpenning syndrome, 309500 (3) |